ATP6V0A2 and congenital disorder of glycosylation: Mutations leading to the loss of ATP6V0A2 gene function and impaired a2 production are responsible for autosomal recessive cutis laxa type II (ARCL II), which is a distinct type of the congenital disorders of glycosylation (CDG) (Kornak et al., 2008; Morava et al., 2009).